Beckwith-Wiedemann Syndrome (2024)

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  • CardosoLCA, ParraA, GilCR, AriasP, GallegoN, RomanelliV, KantaputraPN, LimaL, Llerena JúniorJC, ArberasC, Guillén-NavarroE, NevadoJ, Tenorio-CastanoJ, LapunzinaP, et al.Clinical spectrum and tumour risk analysis in patients with Beckwith-Wiedemann syndrome due to CDKN1C pathogenic variants.Cancers (Basel). 2022;14:3807. [PMC free article: PMC9367242] [PubMed: 35954470]

  • CarliD, OpertiM, RussoS, CocchiG, MilaniD, LeoniC, PradaE, MelisD, FalcoM, SpinaJ, UlianaV, SaraO, SirchiaF, TaraniL, MacchiaioloM, CerratoF, SparagoA, PignataL, TannorellaP, CardaropoliS, BartuliA, RiccioA, FerreroGB, MussaA. Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.Clin Genet.2022;102:314-23. [PMC free article: PMC9545072] [PubMed: 35842840]

  • ChoufaniS, KoJM, LouY, ShumanC, FishmanL, WeksbergR. Paternal uniparental disomy of the entire chromosome 20 in a child with Beckwith-Wiedemann syndrome.Genes (Basel). 2021;12:172. [PMC free article: PMC7911624] [PubMed: 33513760]

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  • CohenJL, CieloCM, KupaJ, DuffyKA, HathawayER, KalishJM, TaylorJA. The utility of early tongue reduction surgery for macroglossia in Beckwith-Wiedemann syndrome.Plast Reconstr Surg.2020;145:803e-813e. [PMC free article: PMC8038320] [PubMed: 32221229]

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  • Diaz-MeyerN, DayCD, KhatodK, MaherER, CooperW, ReikW, JunienC, GrahamG, AlgarE, Der KaloustianVM, HigginsMJ. Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.J Med Genet.2003;40:797-801 [PMC free article: PMC1735305] [PubMed: 14627666]

  • DuffyKA, CieloCM, CohenJL, Gonzalez-GandolfiCX, GriffJR, HathawayER, KupaJ, TaylorJA, WangKH, GangulyA, DeardorffMA, KalishJM. Characterization of the Beckwith-Wiedemann spectrum: diagnosis and management.Am J Med Genet C Semin Med Genet.2019a;181:693-708. [PMC free article: PMC7959855] [PubMed: 31469230]

  • DuffyKA, CohenJL, ElciOU, KalishJM. Development of the serum α-fetoprotein reference range in patients with Beckwith-Wiedemann spectrum.J Pediatr.2019b;212:195-200.e2. [PMC free article: PMC6707865] [PubMed: 31235384]

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  • DuffyKA, GetzKD, HathawayER, ByrneME, MacFarlandSP, KalishJM. Characteristics associated with tumor development in individuals diagnosed with Beckwith-Wiedemann spectrum: novel tumor-(epi)genotype-phenotype associations in the BWSp population.Genes (Basel). 2021;12:1839. [PMC free article: PMC8621885] [PubMed: 34828445]

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  • GazzinA, CarliD, SirchiaF, MolinattoC, CardaropoliS, PalumboG, ZampinoG, FerreroGB, MussaA. Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.Am J Med Genet A.2019;179:1691-702. [PubMed: 31339634]

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